Varaico: Literature-Extracted Genetic Variants

MGAM

494 papers

RefSeq Summary

This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of s...

Pfam Domains

Trefoilaa 90–133UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 164–329UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 370–726UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 734–821UCSCGlycosyl hydrolase family 31 C-terminal domain

Trefoilaa 957–999UCSCTrefoil (P-type) domain

Glyco_hydro_31_2ndaa 1236–1622UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Gene Aliases

HGNC Name

maltase-glucoamylase

HGNC Alias Name

alpha-glucosidase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365693.1

p.R154W

c.460C>T

Surrounding Variants

1 paper

NM_001365693.1

p.L155*

c.464T>A

1 paper

NM_001365693.1

p.V163A

c.488T>C

1 paper

NM_001365693.1

p.V168F

c.502G>T

5 papers

NM_001365693.1

p.A175delFs

c.525delA

1 paper

NM_001365693.1

p.E176insFs

c.526_527insG

1 paper

NM_001365693.1

p.E176fs

c.526_527fs

1 paper

NM_001365693.1

p.S180C

c.539C>G

2 papers

NM_001365693.1

p.R182C

c.544C>T

1 paper

NM_001365693.1

p.K186_L187Splc

c.558+1G>A

1 paper

NM_001365693.1

p.K186_L187Splc

c.558+2T>C

1 paper

NM_001365693.1

p.K186_L187Splc

c.559-1G>C

1 paper

NM_001365693.1

p.Q190*

c.568C>T